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E. Duncan · SciRah

Researcher profile · Semantic Scholar

E. Duncan

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E. Duncan — researcher profile on SciRah

h-index: 47
Works: 215
Citations: 11K

Most-cited papers

Attributes and predictors of long COVID
C. Sudre, B. Murray, T. Varsavsky, M. Graham +29 more
2021Nature Medicine2,232 citations Open access
Semantic Scholar
Risk factors and disease profile of post-vaccination SARS-CoV-2 infection in UK users of the COVID Symptom Study app: a prospective, community-based, nested, case-control study
M. Antonelli, R. Penfold, J. Merino, C. Sudre +26 more
2021Lancet. Infectious Diseases (Print)578 citations Open access
Semantic Scholar
Illness duration and symptom profile in symptomatic UK school-aged children tested for SARS-CoV-2
E. Molteni, C. Sudre, L. Canas, S. Bhopal +18 more
2021The Lancet Child & Adolescent Health348 citations Open access
Semantic Scholar
Attributes and predictors of Long-COVID: analysis of COVID cases and their symptoms collected by the Covid Symptoms Study App
C. Sudre, B. Murray, T. Varsavsky, M. Graham +29 more
2020medRxiv243 citations Open access
Semantic Scholar
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
Hong-Jun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M. M. A. Martin +29 more
2017New England Journal of Medicine222 citations Open access
Semantic Scholar
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease
Scott E. Youlten, J. Kemp, John G. Logan, Elena J. Ghirardello +33 more
2020Nature Communications114 citations Open access
Semantic Scholar
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
J. Szot, H. Cuny, G. Blue, D. Humphreys +13 more
2018Circulation Genomic and Precision Medicine88 citations Open access
Semantic Scholar
Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?
Amanda J. Seabrook, J. Harris, Sofia B Velosa, Edward J. Kim +16 more
2020Journal of Clinical Endocrinology and Metabolism79 citations Open access
Semantic Scholar
Anxiety and depression symptoms after COVID-19 infection: results from the COVID Symptom Study app
K. Klaser, E. Thompson, L. Nguyen, C. Sudre +21 more
2021Journal of Neurology Neurosurgery & Psychiatry69 citations Open access
Semantic Scholar
Risk factors for long COVID: analyses of 10 longitudinal studies and electronic health records in the UK
E. Thompson, Dylan M. Williams, A. Walker, Ruth E. Mitchell +28 more
2021medRxiv68 citations Open access
Semantic Scholar
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Emma M. Wade, P. Daniel, Z. Jenkins, A. McInerney-Leo +26 more
2016American Journal of Human Genetics65 citations Open access
Semantic Scholar
Bayesian approach to determining penetrance of pathogenic SDH variants
Diana E. Benn, Ying Zhu, Katrina A. Andrews, M. Wilding +20 more
2018Journal of Medical Genetics62 citations Open access
Semantic Scholar
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
A. McInerney-Leo, C. le Goff, P. Leo, T. Kenna +10 more
2016Journal of Medical Genetics55 citations
Semantic Scholar
Illness Characteristics of COVID-19 in Children Infected with the SARS-CoV-2 Delta Variant
E. Molteni, C. Sudre, Liane Dos Santos Canas, S. Bhopal +19 more
2021medRxiv51 citations Open access
Semantic Scholar
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families
A. McInerney-Leo, J. Harris, M. Gattas, Elizabeth Peach +10 more
2016Human Mutation48 citations Open access
Semantic Scholar
Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes
C. Gregson, F. Newell, P. Leo, Graeme Clark +16 more
2018Bone47 citations Open access
Semantic Scholar
Author Correction: Attributes and predictors of long COVID
C. Sudre, B. Murray, T. Varsavsky, M. Graham +29 more
2021Nature Medicine43 citations Open access
Semantic Scholar
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis
C. Gregson, Dylan J. M. Bergen, P. Leo, R. Sessions +17 more
2019Journal of Bone and Mineral Research42 citations Open access
Semantic Scholar
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease
P. Robinson, P. Leo, Jennifer J. Pointon, J. Harris +8 more
2016npj Genomic Medicine41 citations Open access
Semantic Scholar
Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.
K. Williams, Emily P. McCann, Jennifer A. Fifita, Katharine Y. Zhang +6 more
2015Neurobiology of Aging41 citations Open access
Semantic Scholar
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases
C. Gregson, L. Wheeler, S. Hardcastle, L. Appleton +17 more
2015Journal of Bone and Mineral Research40 citations Open access
Semantic Scholar
Comprehensive genetic screening: The prevalence of maturity‐onset diabetes of the young gene variants in a population‐based childhood diabetes cohort
S. Johnson, J. Ellis, P. Leo, L. Anderson +12 more
2018Pediatric Diabetes39 citations Open access
Semantic Scholar
Illness duration and symptom profile in a large cohort of symptomatic UK school-aged children tested for SARS-CoV-2
E. Molteni, C. Sudre, L. Canas, S. Bhopal +18 more
2021medRxiv35 citations Open access
Semantic Scholar
Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma.
Aidan J. Flynn, T. Dwight, Jessica M. Harris, Diana E. Benn +10 more
2016Journal of Clinical Endocrinology and Metabolism32 citations Open access
Semantic Scholar
HLA and KIR Associations of Cervical Neoplasia
Xiao Bao, A. Hanson, M. Madeleine, Sophia S. Wang +30 more
2018Journal of Infectious Diseases31 citations Open access
Semantic Scholar
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function
Claudio R. Cortés, A. McInerney-Leo, I. Vogel, Maria C. Rondón Galeano +9 more
2016Scientific Reports31 citations Open access
Semantic Scholar
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
A. Maharaj, Federica Buonocore, E. Meimaridou, G. Ruiz-Babot +33 more
2018Journal of the Endocrine Society30 citations Open access
Semantic Scholar
Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life
S. Johnson, H. Carter, P. Leo, S. Hollingworth +7 more
2018Diabetes Care29 citations Open access
Semantic Scholar
A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young
Sarah M. Graff, S. Johnson, P. Leo, P. Dadi +9 more
2021JCI Insight27 citations Open access
Semantic Scholar
Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls
A. McInerney-Leo, E. Duncan
2021Frontiers in Endocrinology26 citations Open access
Semantic Scholar
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Ella M. M. A. Martin, Annabelle Enriquez, D. Sparrow, D. Humphreys +30 more
2020Human Molecular Genetics25 citations Open access
Semantic Scholar
The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community
D. Kiel, J. Kemp, F. Rivadeneira, J. Westendorf +7 more
2020Journal of Bone and Mineral Research25 citations Open access
Semantic Scholar
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
A. McInerney-Leo, L. Wheeler, M. Marshall, L. Anderson +5 more
2017American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
The Genetic Architecture of High Bone Mass
C. Gregson, E. Duncan
2020Frontiers in Endocrinology23 citations Open access
Semantic Scholar
COVID-19 due to the B.1.617.2 (Delta) variant compared to B.1.1.7 (Alpha) variant of SARS-CoV-2: two prospective observational cohort studies
K. Klaser, E. Molteni, M. Graham, L. Canas +17 more
2021medRxiv21 citations Open access
Semantic Scholar
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia
K. Z. Maung, P. Leo, M. Bassal, D. A. Casolari +21 more
2018Blood Cancer Journal21 citations Open access
Semantic Scholar
Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations
E. Duncan, L. Thornton, A. Hinney, M. Daly +4 more
2016bioRxiv21 citations Open access
Semantic Scholar
Disentangling post-vaccination symptoms from early COVID-19
L. Canas, Marc F. Österdahl, Jie Deng, Christina Hu +16 more
2021medRxiv20 citations Open access
Semantic Scholar
The physiological and glycaemic changes in breastfeeding women with type 1 diabetes mellitus.
N. Achong, E. Duncan, H. Mcintyre, L. Callaway
2018Diabetes Research and Clinical Practice20 citations Open access
Semantic Scholar
Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.
T. Niu, Ning Liu, Ming Zhao, Guie Xie +30 more
2015Human Molecular Genetics20 citations Open access
Semantic Scholar
A novel INS mutation in a family with maturity‐onset diabetes of the young: Variable insulin secretion and putative mechanisms
S. Johnson, I. McGown, U. Oppermann, L. Conwell +2 more
2018Pediatric Diabetes19 citations Open access
Semantic Scholar
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors
Dimuthu Alankarage, Annabelle Enriquez, R. Steiner, Cathy L. Raggio +8 more
2022Differentiation; research in biological diversity17 citations Open access
Semantic Scholar
COL1A1 C‐propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?
A. M. McInerney-Leo, E. Duncan, P. Leo, B. Gardiner +5 more
2015Clinical Genetics17 citations
Semantic Scholar
Whole‐exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism
S. Johnson, P. Leo, A. M. McInerney-Leo, L. Anderson +7 more
2018Pediatric Diabetes16 citations Open access
Semantic Scholar
Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort
Owen Cronin, D. Subedi, Laura Forsyth, K. Goodman +35 more
2020Journal of Bone and Mineral Research15 citations Open access
Semantic Scholar
PET detectives: Molecular imaging for phaeochromocytomas and paragangliomas in the genomics era
S. Ryder, Amanda J Love, E. Duncan, D. Pattison
2020Clinical Endocrinology13 citations
Semantic Scholar
Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic‐pituitary‐adrenal axis function after pituitary surgery
K. English, W. Inder, Z. Weedon, G. Dimeski +4 more
2017Clinical Endocrinology12 citations Open access
Semantic Scholar
COVID-19 vaccination in pregnancy—number needed to vaccinate to avoid harm
L. Magee, P. von Dadelszen, E. Kalafat, E. Duncan +4 more
2021Lancet. Infectious Diseases (Print)11 citations Open access
Semantic Scholar
Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family
S. Johnson, P. Leo, L. Conwell, M. Harris +2 more
2018Journal of Diabetes11 citations
Semantic Scholar
Characterization of Normal Murine Carpal Bone Development Prompts Re-Evaluation of Pathologic Osteolysis as the Cause of Human Carpal-Tarsal Osteolysis Disorders.
S. Lazarus, Hsu-Wen Tseng, Felicity Lawrence, M. Woodruff +2 more
2017American Journal of Pathology11 citations Open access
Semantic Scholar

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